Detalhe da pesquisa
1.
Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia.
Eur J Neurol;
30(12): 3828-3833, 2023 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37578187
2.
Relationship between sleep quality and cognitive performance in patients with epilepsy.
Epilepsy Behav;
122: 108127, 2021 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34147020
3.
Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations.
Ann Neurol;
85(6): 899-906, 2019 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30900782
4.
Effectiveness and safety of perampanel monotherapy for focal and generalized tonic-clonic seizures: Experience from a national multicenter registry.
Epilepsia;
61(6): 1109-1119, 2020 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32511754
5.
MONOZEB: Long-term observational study of eslicarbazepine acetate monotherapy.
Epilepsy Behav;
97: 51-59, 2019 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31181429
6.
Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide.
Hum Mutat;
34(1): 79-82, 2013 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22936364
7.
Proposed Recommendations for the Management of Depression in Adults with Epilepsy: An Expert Consensus.
Neurol Ther;
12(2): 479-503, 2023 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36692706
8.
Olfactory deficits and cardiac 123I-MIBG in Parkinson's disease related to the LRRK2 R1441G and G2019S mutations.
Mov Disord;
26(11): 2026-31, 2011 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21611983
9.
Does the severity of the LGMD2A phenotype in compound heterozygotes depend on the combination of mutations?
Muscle Nerve;
44(5): 710-4, 2011 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22006685
10.
Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.
Genes (Basel);
11(5)2020 05 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32403337
11.
Economic Burden of Contraception Management in Spain.
J Health Econ Outcomes Res;
6(1): 63-74, 2018.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32685572
12.
LACONORTE study: Efficacy and security of lacosamide as first add-on therapy for focal-onset epilepsy in real-life setting.
Epilepsy Res;
145: 51-54, 2018 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29890341
13.
ALS: A bucket of genes, environment, metabolism and unknown ingredients.
Prog Neurobiol;
142: 104-129, 2016 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27236050
14.
Cancer risk in DM1 is sex-related and linked to miRNA-200/141 downregulation.
Neurology;
87(12): 1250-7, 2016 Sep 20.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27558368
15.
Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes.
Neuromuscul Disord;
26(1): 33-40, 2016 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26573435
16.
Trimetazidine induces parkinsonism, gait disorders and tremor.
Therapie;
60(4): 419-22, 2005.
Artigo
em Inglês
| MEDLINE
| ID: mdl-16268443
17.
Clinical evidences supporting the Src/c-Abl pathway as potential therapeutic target in amyotrophic lateral sclerosis.
J Neurol Sci;
393: 80-82, 2018 10 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30125805
18.
The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism.
J Mol Med (Berl);
91(12): 1399-406, 2013 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23955123
19.
Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy.
Neuromuscul Disord;
21(8): 533-42, 2011 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21676617
20.
Myopathy with hexagonally cross-linked crystalloid inclusions: delineation of a clinico-pathological entity.
Neuromuscul Disord;
20(11): 701-8, 2010 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20637616